KEGG   Homo sapiens (human): 56262
Entry
56262             CDS       T01001                                 
Symbol
LRRC8A, AGM5, HsLRRC8A, LRRC8, SWELL1
Name
(RefSeq) leucine rich repeat containing 8 VRAC subunit A
  KO
K22038  volume-regulated anion channel
Organism
hsa  Homo sapiens (human)
Disease
H00085  Agammaglobulinemias
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    56262 (LRRC8A)
Ion channels [BR:hsa04040]
 Chloride channels
  Chloride channel, volume-regulated (VRAC)
   56262 (LRRC8A)
SSDB
Motif
Pfam: Pannexin_like LRR_8 LRR_4 LRR_5 LRR_1 LRR_9 BPD_transp_2 LRR_6
Other DBs
NCBI-GeneID: 56262
NCBI-ProteinID: NP_001120716
OMIM: 608360
HGNC: 19027
Ensembl: ENSG00000136802
UniProt: Q8IWT6 A8K1C7
Structure
Position
9:128882133..128918039
AA seq 810 aa
MIPVTELRYFADTQPAYRILKPWWDVFTDYISIVMLMIAVFGGTLQVTQDKMICLPCKWV
TKDSCNDSFRGWAAPGPEPTYPNSTILPTPDTGPTGIKYDLDRHQYNYVDAVCYENRLHW
FAKYFPYLVLLHTLIFLACSNFWFKFPRTSSKLEHFVSILLKCFDSPWTTRALSETVVEE
SDPKPAFSKMNGSMDKKSSTVSEDVEATVPMLQRTKSRIEQGIVDRSETGVLDKKEGEQA
KALFEKVKKFRTHVEEGDIVYRLYMRQTIIKVIKFILIICYTVYYVHNIKFDVDCTVDIE
SLTGYRTYRCAHPLATLFKILASFYISLVIFYGLICMYTLWWMLRRSLKKYSFESIREES
SYSDIPDVKNDFAFMLHLIDQYDPLYSKRFAVFLSEVSENKLRQLNLNNEWTLDKLRQRL
TKNAQDKLELHLFMLSGIPDTVFDLVELEVLKLELIPDVTIPPSIAQLTGLKELWLYHTA
AKIEAPALAFLRENLRALHIKFTDIKEIPLWIYSLKTLEELHLTGNLSAENNRYIVIDGL
RELKRLKVLRLKSNLSKLPQVVTDVGVHLQKLSINNEGTKLIVLNSLKKMANLTELELIR
CDLERIPHSIFSLHNLQEIDLKDNNLKTIEEIISFQHLHRLTCLKLWYNHIAYIPIQIGN
LTNLERLYLNRNKIEKIPTQLFYCRKLRYLDLSHNNLTFLPADIGLLQNLQNLAITANRI
ETLPPELFQCRKLRALHLGNNVLQSLPSRVGELTNLTQIELRGNRLECLPVELGECPLLK
RSGLVVEEDLFNTLPPEVKERLWRADKEQA
NT seq 2433 nt   +upstreamnt  +downstreamnt
atgattccggtgacagagctccgctactttgcggacacgcagccagcataccggatcctg
aagccgtggtgggatgtgttcacagactacatctctatcgtcatgctgatgattgccgtc
ttcggggggacgctgcaggtcacccaagacaagatgatctgcctgccttgtaagtgggtc
accaaggactcctgcaatgattcgttccggggctgggcagcccctggcccggagcccacc
taccccaactccaccattctgccgacccctgacacgggccccacaggcatcaagtatgac
ctggaccggcaccagtacaactacgtggacgctgtgtgctatgagaaccgactgcactgg
tttgccaagtacttcccctacctggtgcttctgcacacgctcatcttcctggcctgcagc
aacttctggttcaaattcccgcgcaccagctcgaagctggagcactttgtgtctatcctg
ctgaagtgcttcgactcgccctggaccacgagggccctgtcggagacagtggtggaggag
agcgaccccaagccggccttcagcaagatgaatgggtccatggacaaaaagtcatcgacc
gtcagtgaggacgtggaggccaccgtgcccatgctgcagcggaccaagtcacggatcgag
cagggtatcgtggaccgctcagagacgggcgtgctggacaagaaggagggggagcaagcc
aaggcgctgtttgagaaggtgaagaagttccggacccatgtggaggagggggacattgtg
taccgcctctacatgcggcagaccatcatcaaggtgatcaagttcatcctcatcatctgc
tacaccgtctactacgtgcacaacatcaagttcgacgtggactgcaccgtggacattgag
agcctgacgggctaccgcacctaccgctgtgcccaccccctggccacactcttcaagatc
ctggcgtccttctacatcagcctagtcatcttctacggcctcatctgcatgtatacactg
tggtggatgctacggcgctccctcaagaagtactcgtttgagtcgatccgtgaggagagc
agctacagcgacatccccgacgtcaagaacgacttcgccttcatgctgcacctcattgac
caatacgacccgctctactccaagcgcttcgccgtcttcctgtcggaggtgagtgagaac
aagctgcggcagctgaacctcaacaacgagtggacgctggacaagctccggcagcggctc
accaagaacgcgcaggacaagctggagctgcacctgttcatgctcagtggcatccctgac
actgtgtttgacctggtggagctggaggtcctcaagctggagctgatccccgacgtgacc
atcccgcccagcattgcccagctcacgggcctcaaggagctgtggctctaccacacagcg
gccaagattgaagcgcccgcgctggccttcctgcgtgagaacctgcgggcgctgcacatc
aagttcaccgacatcaaggagatcccgctgtggatctatagcctgaagacactggaggag
ctgcacctgacgggcaacctgagcgcggagaacaaccgctacatcgtcatcgacgggctg
cgggagctcaaacgcctcaaggtgctgcggctcaagagcaacctaagcaagctgccacag
gtggtcacagatgtgggcgtgcacctgcagaagctgtccatcaacaatgagggcaccaag
ctcatcgtcctcaacagcctcaagaagatggcgaacctgactgagctggagctgatccgc
tgtgacctggagcgcatcccccactccatcttcagcctccacaacctgcaggagattgac
ctcaaggacaacaacctcaagaccatcgaggagatcatcagcttccagcacctgcaccgc
ctcacctgccttaagctgtggtacaaccacatcgcctacatccccatccagatcggcaac
ctcaccaacctggagcgcctctacctgaaccgcaacaagatcgagaagatccccacccag
ctcttctactgccgcaagctgcgctacctggacctcagccacaacaacctgaccttcctc
cctgccgacatcggcctcctgcagaacctccagaacctagccatcacggccaaccggatc
gagacgctccctccggagctcttccagtgccggaagctgcgggccctgcacctgggcaac
aacgtgctgcagtcactgccctccagggtgggcgagctgaccaacctgacgcagatcgag
ctgcggggcaaccggctggagtgcctgcctgtggagctgggcgagtgcccactgctcaag
cgcagcggcttggtggtggaggaggacctgttcaacacactgccacccgaggtgaaggag
cggctgtggagggctgacaaggagcaggcctga

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Ontology (2)   
   KEGG BRITE (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (17)   
   KEGG ORTHOLOGY (1)   
   RefGene (7)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (4)   
   OC (1)   
Protein sequence (30)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (27)   
DNA sequence (55)   
   RefSeq(nuc) (27)   
   GenBank (14)   
   EMBL (14)   
3D Structure (8)   
   PDB (8)   
Protein domain (8)   
   Pfam (8)   
All databases (124)   

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